Canonical Allele Identifier: CA241230529

Gene: LUM

Linked Data

• dbSNP Id: rs1046838600
• gnomAD v2: 12-91501225-G-A
• gnomAD v3: 12-91107448-G-A
• gnomAD v4: 12-91107448-G-A
• MyVariant Identifiers: chr12:g.91501225G>A (hg19) ; chr12:g.91107448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107448G>A , CM000674.2:g.91107448G>A	GRCh38
NC_000012.11:g.91501225G>A , CM000674.1:g.91501225G>A	GRCh37
NC_000012.10:g.90025356G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+670C>T MANE Select	ENSP00000266718.4:n.862+670C>T
ENST00000266718.4:c.862+670C>T	ENSP00000266718.4:n.862+670C>T
ENST00000546642.1:n.612+670C>T
ENST00000548071.1:n.255+670C>T
NM_002345.3:c.862+670C>T	NP_002336.1:n.862+670C>T
NM_002345.4:c.862+670C>T MANE Select	NP_002336.1:n.862+670C>T